Familial cancer research at Peter Mac combines clinical and laboratory-based research to:

  • identify new hereditary cancer predisposition genes
  • improve the identification of people with hereditary cancer syndromes
  • develop new strategies for cancer risk management and personalising cancer treatments.

Familial cancer researchers also investigate the wider psychosocial impact of these syndromes on the well-being of individuals and their families through the work of the Psychosocial Cancer Genetics Research Group.

The Familial Cancer Research Centre is leading on a number of research projects that include:

  • Investigating the role that common genetic variations (of the type we all have) play in inherited breast and ovarian cancer risk.
  • Building a partnership between Australian Familial Cancer Centres (FCCs) to transform their clinical practice into a research resource
  • Studying prostate cancer screening in men with inherited BRCA and mismatch repair (MMR) gene mutations


Our research focus includes:

    • Identifying people with hereditary cancer syndromes and stratifying their individual cancer risk.
    • Developing, implementing and validating new strategies of cancer risk assessment and management, including genetic counselling models and preventative medicines.
    • Identifying and validating new cancer risk predisposition genes through laboratory research.


  • Psychosocial Cancer Genetics Research



  • CASCADE-PIPS: Why patients consent to a rapid autopsy program at the end of life?
  • Evaluation of Telephone Genetic Counselling to Facilitate BRCA1/2 Testing
  • IMPACT Psychosocial: Experiences of Lynch Syndrome carriers’ receiving prostate cancer risk information
  • IMPACT: Targeted prostate cancer screening
  • INSPIRE: Telephone genetic counselling model facilitating decision-making about clinically significant research results
  • Support model for young women who are BRCA1/2 carriers
  • ViP: Variants in Practice
  • Young People with Li-Fraumeni Syndrome: are their psychosocial needs being met?


  • ViP: Variants in Practice


  • Annual review program for gene carriers
  • Hereditary contribution to ovarian cancer
  • ICCon database
  • ICCon: The Inherited Cancer Connect partnership
  • eviQ Audit: Survey and audit of Familial Cancer Clinics


Familial Cancer Centre

Phone: 03 8559 5322

Email: familialcancer@petermac.org


Forrest LE, Young MA. Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors. J Clin Oncol. 2016 Mar 20;34(9):898-901. Epub 2016 Jan 19.

James PA, Sawyer S, Boyle S, Young MA, Kovalenko S, Doherty R, McKinley J, Alsop K, Beshay V, Harris M, Fox S, Lindeman GJ, Mitchell G. Large genomic rearrangements in the familial breast and ovarian cancer gene BRCA1 are associated with an increased frequency of high risk features. Fam Cancer. 2015 Jun;14(2):287-95.


The Familial Cancer Research Centre collaborates with and contributes to a number of large collaborative studies including:

  • The Australian Ovarian Cancer Study (AOCS): Defining the hereditary contribution to ovarian cancer: The role of mismatch repair genes.
  • Mammographic Screening: Improving population based mammographic screening
  • Ovarian Cancer Program: Improving outcomes for women with Ovarian Cancer (Cancer Genomics Program)
  • LIFEPOOL – The NBCF BreastScreen Cohort Demonstration Project: Integration of Breastscreen with an epidemiological, molecular and translational research program
  • BRCAX – WES: Identification of novel breast and ovarian cancer susceptibility genes (Cancer Genomics Program)
  • kConFab: The Kathleen Cuningham foundation consortium for research into familial breast cancer